| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_indel) | Neoplasm | |
| | CTNNB1, LOC126806658 (R218H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CTNNB1, LOC126806659 (Q541* +1 more) | Single nucleotide variant (nonsense) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | CTNNB1, LOC126806659 (E522K +1 more) | Single nucleotide variant (missense variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | CTNNB1, LOC126806658 (L211S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not specified | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | CTNNB1-related disorder | |
| | | Deletion (splice acceptor variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | | Single nucleotide variant (splice donor variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | | Single nucleotide variant (missense variant) | Increased bone mineral density | |
| | | Microsatellite (intron variant) | CTNNB1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | CTNNB1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CTNNB1-related disorder | |
| | | Single nucleotide variant (missense variant) | CTNNB1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CTNNB1-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | CTNNB1, LOC126806658 (A109V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CTNNB1, LOC126806659 (Y425C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CTNNB1, LOC126806658 (T75I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CTNNB1, LOC126806659 (W504fs +1 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Severe intellectual disability-progressive spastic diplegia syndrome +1 more | |
| | CTNNB1, LOC126806659 (V416M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CTNNB1, LOC126806658 (Q78H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CTNNB1, LOC126806658 (D137G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | CTNNB1, LOC126806659 (P526L +1 more) | Single nucleotide variant (missense variant) | not provided | |